Yount W J, Seligmann M, Hong R, Good R, Kunkel H G
J Clin Invest. 1970 Nov;49(11):1957-66. doi: 10.1172/JCI106415.
Analysis of immunoglobulin classes, gammaG subgroups, and Gm genetic markers from 59 patients with various types of immune deficiencies was undertaken to assess the function of the several cistrons concerned with synthesis of gamma globulins. 13 patients including two sibling pairs were found to have gammaG subgroup imbalances. All of these patients had non sex-linked disease. 11 of the 13 had preponderance of the gammaG3 subgroup. In most instances of gammaG3 preponderance it was the Gm(b) type of gammaG3 that was selectively retained; the Gm(g) type, controlled by the allelic gene was markedly depressed but not absent in the cases where it could be studied. Other imbalances, either seen concomitantly with gammaG3 preponderance or independently, included predominance of the gammaG2 subgroup and selective absence of single gammaG subgroups.One family was encountered with probable structural gene abnormalities in the autosomal Gm loci. Both parents had different abnormal gene complexes detectable by absence of specific Gm markers and the propositus received both types from the parents. Similar gene complexes have been seen previously in rare instances through population screening but only in the heterozygous state and were not associated with clinically evident hypogammaglobulinemia. Of several other families of patients with subgroup imbalance, two were informative in that structural gene defects could be excluded. Studies on 22 first degree relatives of patients with subgroup imbalances indicated that the most common abnormality detected was in gammaA which was absent in 3 and markedly decreased in 2 others; other abnormalities included decreased levels of specific genetic types of gammaG globulin. It is concluded that gammaG subgroup imbalances are frequently found in non sex-linked immunoglobulin deficiency disorders and in some instances may be associated with family abnormalities suggesting either regulator or structural gene defects.
对59例患有各种免疫缺陷类型的患者的免疫球蛋白类别、γG亚组和Gm遗传标记进行了分析，以评估与γ球蛋白合成相关的几个顺反子的功能。发现13例患者（包括两对同胞）存在γG亚组失衡。所有这些患者均患有非性连锁疾病。13例中的11例γG3亚组占优势。在大多数γG3占优势的情况下，选择性保留的是γG3的Gm(b)型；由等位基因控制的Gm(g)型在可研究的病例中明显降低但并非不存在。其他失衡情况，要么与γG3占优势同时出现，要么独立出现，包括γG2亚组占优势和单个γG亚组的选择性缺失。遇到一个家族，其常染色体Gm位点可能存在结构基因异常。父母双方都有可通过特定Gm标记缺失检测到的不同异常基因复合体，先证者从父母双方获得了两种类型。以前通过人群筛查在罕见情况下也见过类似的基因复合体，但仅处于杂合状态，且与临床上明显的低丙种球蛋白血症无关。在其他几个亚组失衡患者家族中，有两个家族具有参考价值，因为可以排除结构基因缺陷。对22名亚组失衡患者的一级亲属进行的研究表明，检测到的最常见异常是γA，3例缺失，另外2例明显降低；其他异常包括特定遗传类型的γG球蛋白水平降低。得出的结论是，γG亚组失衡在非性连锁免疫球蛋白缺乏症中经常发现，在某些情况下可能与提示调节基因或结构基因缺陷的家族异常有关。
